Syndromic microphthalmia type 5

General Information (adopted from Orphanet):

Synonyms, Signs: MCOPS5 RETINAL DYSTROPHY, EARLY-ONSET, AND PITUITARY DYSFUNCTION, INCLUDED
MCOPS5
Syndromic microphthalmia/anophthalmia due to OTX2 mutation
Number of Symptoms 27
OrphanetNr: 178364
OMIM Id: 610125
ICD-10: Q11.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 20 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic microphthalmia
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis rare [HPO:skoehler] 257 / 7739
2
 (HPO:0000028) Cryptorchidism rare [HPO:skoehler] 347 / 7739
3
 (HPO:0008689) Bilateral cryptorchidism 38 / 7739
4
 (HPO:0000568) Microphthalmia 183 / 7739
5
 (HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
6
 (HPO:0000482) Microcornea 102 / 7739
7
 (HPO:0000589) Coloboma 47 / 7739
8
 (HPO:0000518) Cataract 454 / 7739
9
 (HPO:0000556) Retinal dystrophy 65 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0001250) Seizures 1245 / 7739
12
 (HPO:0011755) Ectopic posterior pituitary rare [HPO:skoehler] 4 / 7739
13
 (HPO:0001388) Joint laxity 117 / 7739
14
 (HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
15
 (HPO:0010547) Muscle flaccidity 466 / 7739
16
 (HPO:0001252) Muscular hypotonia 990 / 7739
17
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
18
 (HPO:0001324) Muscle weakness 859 / 7739
19
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
20
 (OMIM) Microphthalmia, unilateral or bilateral 1 / 7739
21
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
22
 (MedDRA:10051944) Pituitary hypoplasia 2 / 7739
23
 (OMIM) Optic nerve hypoplasia or agenesis 1 / 7739
24
 (OMIM) Pituitary hormone deficiencies 2 / 7739
25
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
26
 (OMIM) Anophthalmia, clinical, unilateral or bilateral 1 / 7739
27
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum 180 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ragge et al. (2005) described affected members of 8 unrelated families with unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus ...
Molecular genetics OMIM Using a candidate gene approach, Ragge et al. (2005) analyzed 333 patients with ocular malformation spectrum defects and identified heterozygous mutations in the OTX2 gene in 11 affected individuals from 8 families. In 2 families, the mutations occurred ...